"Revvity Omics, Revvity"[submitter] AND "NBAS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1081845	NM_015909.4(NBAS):c.5984G>A (p.Arg1995Gln)	NBAS (R1995Q)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2434041	NM_015909.4(NBAS):c.5351A>G (p.His1784Arg)	NBAS (H1784R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 517623	NM_015909.4(NBAS):c.1987C>T (p.Gln663Ter)	NBAS (Q663*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure +1 more	GPathogenic/Likely pathogenic
Select item 1501962	NM_015909.4(NBAS):c.1903A>T (p.Ile635Phe)	NBAS (I635F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1323328	NM_015909.4(NBAS):c.1858A>T (p.Lys620Ter)	NBAS (K620*)	Single nucleotide variant (nonsense +1 more)	Infantile liver failure syndrome 2 +1 more	GPathogenic
Select item 795966	NM_015909.4(NBAS):c.767G>A (p.Cys256Tyr)	NBAS (C256Y)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1426959	NM_015909.4(NBAS):c.359C>T (p.Ser120Phe)	NBAS (S120F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

ClinVar